McDonald-McGinn D M, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming J E, Driscoll D, Clark B J, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel B S, Zackai E H
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA 19104, USA.
Genet Test. 1997;1(2):99-108. doi: 10.1089/gte.1997.1.99.
A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal cardiac anomalies, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome. We have evaluated 181 patients with this deletion. We describe our cohort of patients, how they presented, and what has been learned by having the same subspecialists evaluate all of the children. The results help define the extremely variable phenotype associated with this submicroscopic deletion and will assist clinicians in formulating a management plan based on these findings.
在大多数患有DiGeorge综合征、腭心面综合征、圆锥动脉干异常面容综合征的患者中，以及一些患有孤立性圆锥动脉干心脏异常、Opitz G/BBB综合征和Cayler心面综合征的患者中，已发现22q11.2染色体存在亚显微缺失。我们评估了181例有这种缺失的患者。我们描述了我们的患者队列、他们的临床表现，以及由同一亚专业医生评估所有儿童所获得的经验。这些结果有助于明确与这种亚显微缺失相关的极其多样的表型，并将帮助临床医生根据这些发现制定管理计划。
